Variant report

Variant	rs572633578
Chromosome Location	chr12:104301541-104301542
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:104301482-104301808	GM12878	blood:	n/a	n/a
2	TEAD4	chr12:104301411-104301755	K562	blood:	n/a	n/a
3	POU2F2	chr12:104301173-104301973	GM12891	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
4	GTF2F1	chr12:104301469-104301621	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:104301405-104301831	GM12878	blood:	n/a	n/a
6	BCLAF1	chr12:104301478-104301813	K562	blood:	n/a	n/a
7	POLR2A	chr12:104301412-104302006	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:104301213-104302168	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:104301137-104302264	GM12891	blood:	n/a	n/a
10	TBP	chr12:104301370-104301807	K562	blood:	n/a	n/a
11	POLR2A	chr12:104301517-104301837	H1-hESC	embryonic stem cell:	n/a	n/a
12	POU2F2	chr12:104301115-104301910	GM12878	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
13	TAF7	chr12:104301430-104301789	K562	blood:	n/a	n/a
14	BCLAF1	chr12:104301201-104301831	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:104301315-104302418	GM12892	blood:	n/a	n/a
16	PML	chr12:104301504-104301775	GM12878	blood:	n/a	n/a
17	CEBPB	chr12:104301421-104301753	K562	blood:	n/a	n/a
18	POLR2A	chr12:104301539-104302029	K562	blood:	n/a	n/a
19	EP300	chr12:104301442-104301743	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:104301355-104301997	GM12891	blood:	n/a	n/a
21	ZNF143	chr12:104301393-104301593	GM12878	blood:	n/a	n/a
22	PML	chr12:104301253-104302128	GM12878	blood:	n/a	n/a
23	POU2F2	chr12:104301226-104301892	GM12878	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
24	POLR2A	chr12:104301277-104302096	GM18505	blood:	n/a	n/a
25	POLR2A	chr12:104301350-104301869	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:104301538-104301797	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:104301353-104302080	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:104301441-104301798	K562	blood:	n/a	n/a
29	POLR2A	chr12:104301315-104302343	GM12892	blood:	n/a	n/a
30	POLR2A	chr12:104301395-104302291	GM12892	blood:	n/a	n/a
31	CEBPB	chr12:104301534-104301584	A549	lung:	n/a	n/a
32	POLR2A	chr12:104301500-104301998	GM12891	blood:	n/a	n/a
33	POLR2A	chr12:104301378-104301824	PANC-1	pancreas:	n/a	n/a
34	RUNX3	chr12:104301135-104301811	GM12878	blood:	n/a	n/a
35	CEBPB	chr12:104301369-104301788	K562	blood:	n/a	n/a
36	POLR2A	chr12:104301189-104302266	GM12891	blood:	n/a	n/a
37	POLR2A	chr12:104301240-104302222	GM12878	blood:	n/a	n/a
38	MTA3	chr12:104301288-104301972	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:104301538-104301862	Hela-S3	cervix:	n/a	n/a
40	NFATC1	chr12:104301287-104301917	GM12878	blood:	n/a	n/a
41	NFIC	chr12:104301190-104301952	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:104301527-104301861	IMR90	lung:	n/a	n/a
43	TBP	chr12:104301255-104301822	GM12878	blood:	n/a	n/a
44	TBP	chr12:104301437-104301702	H1-hESC	embryonic stem cell:	n/a	n/a
45	BCLAF1	chr12:104301496-104301892	K562	blood:	n/a	n/a
46	PML	chr12:104301415-104301825	K562	blood:	n/a	n/a
47	CEBPB	chr12:104301430-104301711	IMR90	lung:	n/a	n/a
48	TEAD4	chr12:104301404-104301706	K562	blood:	n/a	n/a
49	POLR2A	chr12:104301515-104301997	K562	blood:	n/a	n/a
50	POU2F2	chr12:104301189-104301978	GM12891	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405

No.	Distal block	Cell Line	Cell type
1	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104300942..104303237-chr12:104305354..104306983,2	K562	blood:
3	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
4	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
5	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
6	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
7	chr12:104300054..104301588-chr12:104323832..104325388,2	K562	blood:
8	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:
9	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
10	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3344053	chr12:104299847-104302395	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
3	esv3388506	chr12:104300622-104301720	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:104299000-104301600	Weak transcription	Thymus	Thymus
5	chr12:104299400-104303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:104299600-104301600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:104299600-104302000	Enhancers	NHEK	skin
8	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:104299800-104301600	Enhancers	Primary T cells from cord blood	blood
10	chr12:104299800-104301800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:104299800-104303000	Enhancers	Fetal Thymus	thymus
12	chr12:104300400-104302000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:104300600-104302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104301000-104301600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
16	chr12:104301200-104301800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr12:104301200-104301800	Enhancers	NHDF-Ad	bronchial
18	chr12:104301400-104301600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:104301400-104301600	Enhancers	HSMM	muscle
20	chr12:104301400-104301600	Enhancers	NH-A	brain
21	chr12:104301400-104301800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:104301400-104301800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:104301400-104301800	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:104301400-104301800	Enhancers	Osteobl	bone
25	chr12:104301400-104302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:104301400-104302400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:104301400-104302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:104301400-104302800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:104301400-104304200	Enhancers	HMEC	breast
32	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:104301400-104304400	Enhancers	HSMMtube	muscle

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